Maddalena Casale

Author PubWeight™ 7.15‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood 2011 2.29
2 Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation). Haematologica 2011 1.02
3 Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene. Orphanet J Rare Dis 2011 0.86
4 Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range. Haematologica 2013 0.81
5 HNF-1β mutation affects PKD2 and SOCS3 expression causing renal cysts and diabetes in MODY5 kindred. J Nephrol 2013 0.78
6 Long-term treatment with deferiprone enhances left ventricular ejection function when compared to deferoxamine in patients with thalassemia major. Blood Cells Mol Dis 2013 0.76
7 Organizing national responses for rare blood disorders: the Italian experience with sickle cell disease in childhood. Orphanet J Rare Dis 2013 0.75
8 Nephrolithiasis in patients exposed to deferasirox and desferioxamine: probably an age-linked event with different effects on some renal parameters. Ann Hematol 2013 0.75